Gene: ATP6V1G2-DDX39B

Alternate names for this Gene: -

Gene Summary: This locus represents naturally occurring read-through transcription between the neighboring ATP6V1G2 (ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2) and DDX39B (DEAD box polypeptide 39B) genes located in the major histocompatibility complex class III region of chromosome 6. The read-through transcript and is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.33

Description of this Gene: ATP6V1G2-DDX39B readthrough (NMD candidate)

Type of Gene: ncRNA

Gene: DDX39B

Alternate names for this Gene: BAT1|D6S81E|UAP56

Gene Summary: This gene encodes a member of the DEAD box family of RNA-dependent ATPases that mediate ATP hydrolysis during pre-mRNA splicing. The encoded protein is an essential splicing factor required for association of U2 small nuclear ribonucleoprotein with pre-mRNA, and it also plays an important role in mRNA export from the nucleus to the cytoplasm. This gene belongs to a cluster of genes localized in the vicinity of the genes encoding tumor necrosis factor alpha and tumor necrosis factor beta. These genes are all within the human major histocompatibility complex class III region. Mutations in this gene may be associated with rheumatoid arthritis. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on both chromosomes 6 and 11. Read-through transcription also occurs between this gene and the upstream ATP6V1G2 (ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2) gene.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.33

Description of this Gene: DExD-box helicase 39B

Type of Gene: protein-coding

rs2071595 in ATP6V1G2-DDX39B;DDX39B gene and Allergic Reaction PMID 23817569 2013 A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.

rs933208 in ATP6V1G2-DDX39B;DDX39B gene and Graves Disease PMID 21900946 2011 Identification of independent risk loci for Graves' disease within the MHC in the Japanese population.

rs2071596 in ATP6V1G2-DDX39B;DDX39B gene and Rheumatoid Arthritis PMID 17804836 2007 TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.

PMID 19503088 2009 REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.

PMID 21156761 2011 A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.